{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T04:46:24Z","timestamp":1790657184687,"version":"4.1.0"},"reference-count":10,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1016\/j.clim.2016.02.008","type":"journal-article","created":{"date-parts":[[2016,2,23]],"date-time":"2016-02-23T04:56:44Z","timestamp":1456203404000},"page":"1-3","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"special_numbering":"C","title":["Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia"],"prefix":"10.1016","volume":"165","author":[{"given":"Ayca","family":"Kiykim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wojciech","family":"Garncarz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elif","family":"Karakoc-Aydiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet","family":"Ozen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ertugrul","family":"Kiykim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gozde","family":"Yesil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaan","family":"Boztug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safa","family":"Baris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clim.2016.02.008_bb0005","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10545-010-9210-7","article-title":"The 3-methylglutaconic acidurias: what's new?","volume":"35","author":"Wortmann","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.clim.2016.02.008_bb0010","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1007\/s10545-012-9580-0","article-title":"Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature","volume":"36","author":"Wortmann","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.clim.2016.02.008_bb0015","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.ajhg.2014.12.013","article-title":"CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder","volume":"96","author":"Wortmann","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clim.2016.02.008_bb0020","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/j.ajhg.2014.12.020","article-title":"CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria","volume":"96","author":"Saunders","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clim.2016.02.008_bb0025","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1136\/jmedgenet-2014-102952","article-title":"Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria","volume":"52","author":"Capo-Chichi","year":"2015","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.clim.2016.02.008_bb0030","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1097\/MOP.0b013e32834262f8","article-title":"Genetic etiologies of severe congenital neutropenia","volume":"23","author":"Boztug","year":"2011","journal-title":"Curr. Opin. Pediatr."},{"issue":"4","key":"10.1016\/j.clim.2016.02.008_bb0035","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s10875-015-0156-2","article-title":"JAGN1 deficient severe congenital neutropenia: two cases from the same family","volume":"35","author":"Baris","year":"2015","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.clim.2016.02.008_bb0040","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1182\/blood-2005-11-4377","article-title":"Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2","volume":"108","author":"Jung","year":"2006","journal-title":"Blood"},{"key":"10.1016\/j.clim.2016.02.008_bb0045","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1086\/422197","article-title":"Delineation of Cohen syndrome following a large-scale genotype-phenotype screen","volume":"75","author":"Kolehmainen","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clim.2016.02.008_bb0050","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.1320450309","article-title":"Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28","volume":"45","author":"Ades","year":"1993","journal-title":"Am. J. Med. Genet."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661616300249?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661616300249?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,14]],"date-time":"2018-09-14T19:52:57Z","timestamp":1536954777000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661616300249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4]]},"references-count":10,"alternative-id":["S1521661616300249"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2016.02.008","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2016,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2016.02.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}